Recruiting OBSERVATIONAL NCT01793168
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford (CoRDS)
Coordination of Rare Diseases at Sanford
Sponsor: 1p36 Deletion Support and Awareness
Conditions
1p36 Deletion Syndrome 4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome 4p16.3 Microduplication Syndrome Achalasia Cardia Achalasia Icrocephaly Syndrome Achalasia-Addisonian Syndrome Acquired Ataxia Acquired Myasthenia Gravis Acrodysostosis Addison Disease Adult Hypophosphatasia Adult-onset Autosomal Recessive Cerebellar Ataxia Alagille Syndrome Alcohol Related Ataxia Alstrom Syndrome Anal Fistula Aniridia Aniridia - Absent Patella Aniridia - Cerebellar Ataxia - Intellectual Disability Aniridia - Ptosis - Intellectual Disability - Familial Obesity Aniridia - Renal Agenesis - Psychomotor Retardation Aniridia-intellectual Disability Syndrome Arginase 1 Deficiency Ataxia - Genetic Diagnosis - Unknown Ataxia - Oculomotor Apraxia Type 1 Ataxia - Other Ataxia With Dementia Ataxia With Vitamin E Deficiency Ataxia-telangiectasia Ataxia-telangiectasia Variant Ataxia-telangiectasia-like Disorder Atypical HUS Atypical Hemolytic Uremic Syndrome Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA) Autosomal Dominant Cerebellar Ataxia Autosomal Dominant Cerebellar Ataxia Type 1 Autosomal Dominant Cerebellar Ataxia Type 2 Autosomal Dominant Cerebellar Ataxia Type 3 Autosomal Dominant Cerebellar Ataxia Type 4 Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy Autosomal Dominant Optic Atrophy Autosomal Dominant Spastic Ataxia Autosomal Dominant Spastic Ataxia Type 1 Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly Autosomal Recessive Ataxia Due to PEX10 Deficiency Autosomal Recessive Ataxia Due to Ubiquinone Deficiency Autosomal Recessive Ataxia, Beauce Type Autosomal Recessive Cerebellar Ataxia Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome Autosomal Recessive Congenital Cerebellar Ataxia Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia Autosomal Recessive Metabolic Cerebellar Ataxia Autosomal Recessive Spastic Ataxia Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria Autosomal Recessive Spastic Ataxia With Leukoencephalopathy Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Autosomal Recessive Stickler Syndrome Autosomal Recessive Syndromic Cerebellar Ataxia Axenfeld-Rieger Syndrome Beckwith-Wiedemann Syndrome Behcet's Disease Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia Beta Mannosidosis Beta-Mannosidosis Biliary Atresia Blau Syndrome Bohring-Opitz Syndrome Borjeson-Forssman-Lehman Syndrome Brachydactyly - Nystagmus - Cerebellar Ataxia Brain Tumor Ataxia Breast Implant-Associated Anaplastic Large Cell Lymphoma CRB1 CRELD1 (Cysteine Rich With EGF Like Domains 1) CRMO Cataract - Ataxia - Deafness Cauda Equina Syndrome Caudal Regression Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss Cerebellar Ataxia - Ectodermal Dysplasia Cerebellar Ataxia - Hypogonadism Cerebellar Ataxia With Peripheral Neuropathy Cerebellar Ataxia, Cayman Type Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia Childhood-onset Hypophosphatasia Chronic Recurrent Multifocal Osteomyelitis Cockayne Syndrome Coffin Lowry Syndrome Congenital Sucrase-Isomaltase Deficiency Constitutional Mismatch Repair Deficiency (CMMRD) Cornelia De Lange Syndrome Cystinosis DHDDS Gene Mutations DNM1 Denys-Drash Syndrome Dilated Cardiomyopathy With Ataxia Disorders of Unknown Prevalence EIEE31 Early-onset Ataxia With Dementia Early-onset Cerebellar Ataxia With Retained Tendon Reflexes Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity Early-onset Spastic Ataxia-neuropathy Syndrome Emanuel Syndrome Eosinophilic Gastroenteritis Epilepsy and/or Ataxia With Myoclonus as Major Feature Episodic Ataxia Type 1 Episodic Ataxia Type 3 Episodic Ataxia Type 4 Episodic Ataxia Type 5 Episodic Ataxia Type 6 Episodic Ataxia Type 7 Episodic Ataxia Unknown Type Episodic Ataxia With Slurred Speech Exposure to Medications Ataxia Familial Paroxysmal Ataxia Fish Odor Syndrome Fragile X-associated Tremor/Ataxia Syndrome Frasier Syndrome Friedreich Ataxia GAD Ataxia GNB1 Syndrome Gliadin/Gluten Ataxia Glycogen Storage Disease HSPB8 Myopathy Halitosis Hemophagocytic Lymphohistiocytosis Hereditary Episodic Ataxia Hereditary Myopathy With Early Respiratory Failure Hereditary Sensory and Autonomic Neuropathy Type Ie Hirschsprung Disease Hyperacusis (Hyperacousis) Hypersomnolence Disorder Hypertrophic Olivary Degeneration Hypnic Jerking Hypophosphatasia Idiopathic Gastroparesis Idiopathic Hypersomnia Idiopathic Hypersomnia With Long Sleep Time Idiopathic Hypersomnia Without Long Sleep Time Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD) Infantile Hypophosphatasia Infection or Post Infection Ataxia Intestinal Pseudo-Obstruction Isolated Aniridia Isolated Congenital Asplenia Isolated Klippel-Feil Syndrome Jansen Type Metaphyseal Chondrodysplasia Juvenile Myasthenia Gravis Juvenile Nephropathic Cystinosis KCNMA1-Channelopathy Kabuki Syndrome Kawasaki Disease Kbg Syndrome Kennedy Disease Kleine-Levin Syndrome Labrune Syndrome Lambert Eaton (LEMS) Laryngeal Papillomatosis Late-onset Ataxia With Dementia Leber Congenital Amaurosis Leigh Syndrome Leiomyosarcoma Leiomyosarcoma of Small Intestine Leiomyosarcoma of the Cervix Uteri Leiomyosarcoma of the Corpus Uteri Leukodystrophy Lowe Syndrome Lyme Disease MAND-MBD5-Associated Neurodevelopmental Disorder Machado-Joseph Disease Type 1 Machado-Joseph Disease Type 2 Machado-Joseph Disease Type 3 Malan Syndrome Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome) Maternally-inherited Leigh Syndrome Metachromatic Leukodystrophy (MLD) Mitochondrial Aminoacyl-tRNA Synthetases Mitochondrial Diseases Mollaret Meningitis Moyamoya Disease Mt-aaRS Disorders Mucolipidoses Mucolipidosis Type 4 Multi-systematic Smooth Muscle Dysfunction Syndrome Multiple Endocrine Neoplasia Multiple Endocrine Neoplasia (MEN) Syndrome Multiple Endocrine Neoplasia Type 1 Multiple Endocrine Neoplasia Type 2 Multiple Endocrine Neoplasia Type 2A Multiple Endocrine Neoplasia Type 2B Multiple Endocrine Neoplasia Type II Multiple Endocrine Neoplasia, Type 3 Multiple Endocrine Neoplasia, Type IV Multiple System Atrophy Multiple System Atrophy, Cerebellar Type Multiple System Atrophy, Parkinsonian Type Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus Myasthenia Gravis Myhre Syndrome Myoclonus - Cerebellar Ataxia - Deafness NARP Syndrome Narcolepsy Without Cataplexy Narcolepsy-cataplexy Nephropathic Cystinosis Nicolaides Baraitser Syndrome Non Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature Non-Ketotic Hyperglycinemia Non-hereditary Degenerative Ataxia OPHN1 Syndrome Oculopharyngeal Muscular Dystrophy (OPMD) Odontohypophosphatasia Olivopontocerebellar Atrophy - Deafness Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity Perinatal Lethal Hypophosphatasia Peters Anomaly Peters Anomaly - Cataract Pitt Hopkins Syndrome Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract Post Vaccination Ataxia Post-Head Injury Ataxia Post-Stroke Ataxia Posterior Column Ataxia - Retinitis Pigmentosa Potocki-Shaffer Syndrome Prenatal Benign Hypophosphatasia Primary Biliary Cirrhosis Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature Pyruvate Dehydrogenase Complex Deficiency Disease Rare Ataxia Rare Disorders Rare Gastrointestinal Disorders Rare Hereditary Ataxia Rare Inflammatory Bowel Disease Rare Retinal Disorder Recessive Mitochondrial Ataxia Syndrome Recurrent Respiratory Papillomatosis Recurrent Viral Meningitis Refsum Disease Retinitis Pigmentosa SCAR12 SMC1A Truncated Mutations (Causing Loss of Gene Function) SPATA5 Disorder SPATA5L1 Related Disorder STAG1 Gene Mutation Sacral Agenesis Sacral Agenesis Syndrome Scheuermann Disease Scleroderma Short Bowel Syndrome Silver-Russell Syndrome Due to 11p15 Microduplication Silver-Russell Syndrome Due to Imprinting Defect of 11p15 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 Skraban-Deardorff Syndrome Sleep Myoclonus Spastic Ataxia Spastic Ataxia - Corneal Dystrophy Spastic Ataxia With Congenital Miosis Spasticity-ataxia-gait Anomalies Syndrome Spinal Bulbar Muscular Atrophy Spinocerebellar Ataxia - Dysmorphism Spinocerebellar Ataxia - Unknown Spinocerebellar Ataxia Type 1 Spinocerebellar Ataxia Type 1 With Axonal Neuropathy Spinocerebellar Ataxia Type 10 Spinocerebellar Ataxia Type 11 Spinocerebellar Ataxia Type 12 Spinocerebellar Ataxia Type 13 Spinocerebellar Ataxia Type 14 Spinocerebellar Ataxia Type 15/16 Spinocerebellar Ataxia Type 16 Spinocerebellar Ataxia Type 17 Spinocerebellar Ataxia Type 18 Spinocerebellar Ataxia Type 19/22 Spinocerebellar Ataxia Type 2 Spinocerebellar Ataxia Type 20 Spinocerebellar Ataxia Type 21 Spinocerebellar Ataxia Type 22 Spinocerebellar Ataxia Type 23 Spinocerebellar Ataxia Type 25 Spinocerebellar Ataxia Type 26 Spinocerebellar Ataxia Type 27 Spinocerebellar Ataxia Type 28 Spinocerebellar Ataxia Type 29 Spinocerebellar Ataxia Type 3 Spinocerebellar Ataxia Type 30 Spinocerebellar Ataxia Type 31 Spinocerebellar Ataxia Type 32 Spinocerebellar Ataxia Type 34 Spinocerebellar Ataxia Type 35 Spinocerebellar Ataxia Type 36 Spinocerebellar Ataxia Type 37 Spinocerebellar Ataxia Type 4 Spinocerebellar Ataxia Type 5 Spinocerebellar Ataxia Type 6 Spinocerebellar Ataxia Type 7 Spinocerebellar Ataxia Type 8 Spinocerebellar Ataxia With Axonal Neuropathy Type 2 Spinocerebellar Ataxia With Epilepsy Spinocerebellar Ataxia With Oculomotor Anomaly Sporadic Adult-onset Ataxia of Unknown Etiology Stickler Syndrome Stickler Syndrome Type 1 Stickler Syndrome Type 2 Syndromic Aniridia TBX4 Syndrome TUBB3 Mutation Tango2 Thyroid Antibody Ataxia Toxic Exposure Ataxia Tracheal Papillomatosis Transient Global Amnesia Transient Neonatal Myasthenia Gravis Unclassified Autosomal Dominant Spinocerebellar Ataxia Undiagnosed Disorders VCP Disease Vitamin B12 Deficiency Ataxia WAGR Syndrome WOREE (WWOX-related Epileptic Encephalopathy Warburg Micro Syndrome White Sutton Syndrome Wiedemann-Steiner Syndrome Williams Syndrome Wolf-Hirschhorn Syndrome X-linked Cerebellar Ataxia X-linked Intellectual Disability - Ataxia - Apraxia X-linked Non Progressive Cerebellar Ataxia X-linked Progressive Cerebellar Ataxia X-linked Spinocerebellar Ataxia Type 3 X-linked Spinocerebellar Ataxia Type 4 ZMYND11
Updated 20 times since 2017 Last updated: May 22, 2025 Started: Jul 31, 2010 Primary completion: Dec 31, 2100 Completion: Dec 31, 2100
This information is for research purposes only and is not medical advice. Consult a healthcare provider before making any medical decision.
Listed as NCT01793168, this observational or N/A phase trial focuses on 1p36 Deletion Syndrome and 4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome and remains actively recruiting participants. Sponsored by 1p36 Deletion Support and Awareness, it has been updated 20 times since 2010, reflecting substantial change activity. This study contributes to the evolving evidence base for cancer treatment protocols.
Status Flow
Change History
20 versions recorded-
Jun 2025 — Present [monthly]
Recruiting
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Sep 2024 — Jun 2025 [monthly]
Recruiting
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Jul 2024 — Sep 2024 [monthly]
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Feb 2024 — Jul 2024 [monthly]
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Jul 2022 — Feb 2024 [monthly]
Recruiting
▶ Show 15 earlier versions
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Jan 2022 — Jul 2022 [monthly]
Recruiting
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Dec 2021 — Jan 2022 [monthly]
Recruiting
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Jan 2021 — Dec 2021 [monthly]
Recruiting
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Nov 2020 — Jan 2021 [monthly]
Recruiting
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Sep 2020 — Nov 2020 [monthly]
Recruiting
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Aug 2020 — Sep 2020 [monthly]
Recruiting
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Oct 2019 — Aug 2020 [monthly]
Recruiting
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Apr 2019 — Oct 2019 [monthly]
Recruiting
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Oct 2018 — Apr 2019 [monthly]
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Jun 2018 — Oct 2018 [monthly]
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May 2018 — Jun 2018 [monthly]
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Apr 2018 — May 2018 [monthly]
Recruiting
Phase: NA → None
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Oct 2017 — Apr 2018 [monthly]
Recruiting NA
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Aug 2017 — Oct 2017 [monthly]
Recruiting NA
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Jan 2017 — Aug 2017 [monthly]
Recruiting NA
First recorded
Jul 2010
Trial started
Per CT.gov start date — pre-dates our first snapshot
Eligibility Summary
No eligibility information available.
Contact Information
Sponsor contact:
- 1p36 Deletion Support and Awareness
- 4p- Support Group
- ACTA2 Alliance
- ANA-Aniridia North America
- ARG1D Foundation
- Acrodysostosis Support and Research
- All Things Kabuki
- Alstrom United Kingdom
- American Behcet's Disease Association
- American Multiple Endocrine Neoplasia Support
- Aniridia North America
- Athymia
- Atypical Hemolytic Uremic Syndrome Foundation
- Autoinflammatory Alliance
- BARE Inc
- BLFS Incorporate
- Batten Disease Support and Research Association
- Beyond Batten Disease Foundation
- Bohring-Opitz Syndrome Foundation, INC
- Breast Implant Victim Advocates
- CACNA1H Alliance
- CRELD1 Warriors
- CRMO Foundation
- CURE HSPB8 Myopathy
- Cauda Equina Foundation, Inc
- Cockayne Syndrome Network (Share and Care)
- Coffin Lowry Syndrome Foundation
- Cornelia de Lange Syndrome Foundation
- Cure Blau Syndrome Foundation
- Cure DHDDS
- Cure Mito Foundation
- Cure Mucolipidosis
- Cure VCP Disease,INC
- CureARS A NJ Nonprofit Corporation
- Curing Retinal Blindness Foundation
- Cystinosis Research Foundation
- DNM1 Families
- Endosalpingiosis Foundation, Inc
- FOD Support
- GNB1 Advocacy Group
- Global DARE Foundation
- HSAN1E Society
- Hope for PDCD Foundation
- Hyperacusis Research Limited
- Hypersomnia Foundation
- Hypertrophic Olivary Degeneration Association (HODA)
- Hypnic Jerk-Sleep Myoclonus Support Group
- IMBS Alliance
- ISMRD - Beta Mannosidosis
- International Association for Muscle Glycogen Storage Disease (IamGSD)
- International Foundation for Gastrointestinal Disorders
- International Sacral Agenesis/Caudal Regression Association (ISACRA)
- International Society of Mannosidosis and Related Disorders
- International WAGR Syndrome Association
- Jansen's Foundation
- KBG Syndrome Association
- KCNMA1 Channelopathy International Advocacy Foundation
- Kabuki Syndrome Network
- Kawasaki Disease Foundation
- Kawasaki Disease Foundation Australia
- Kennedy's Disease Association
- Kleine-Levin Syndrome Foundation
- Klippel-Feil Syndrome Alliance
- Klippel-Feil Syndrome Freedom
- Krishnan Family Foundation
- Lambert Eaton (LEMS) Family Association
- Leiomyosarcoma Direct Research Foundation
- Life with LEMS Foundation
- Lowe Syndrome Association
- MANDKind Foundation
- ML4 Foundation
- MLD Foundation
- MSA United Research Consortium
- Maple Syrup Urine Disease Family Support Group
- Marinesco-Sjogren Syndrome Support Group - NORD
- Moyamoya Foundation
- Mucolipidosis Type IV (ML4) Foundation
- Myhre Syndrome Foundation
- National Ataxia Foundation
- National Organization for Disorders of the Corpus Callosum (NODCC)
- Nicolaides Baraitser Syndrome (NCBRS) Worldwide Foundation
- Noah's Hope - Hope4Bridget Foundation
- Non- Ketotic Hyperglycinemia (NKH) Crusaders
- OPMD Association
- PROS Foundation
- People with Narcolepsy 4 People with Narcolepsy (PWN4PWN)
- Pitt Hopkins Research Foundation
- Project Sebastian
- Recurrent Meningitis Association
- Recurrent Respiratory Papillomatosis Foundation
- Remember the Girls
- Riaan Research Initiative
- SHINE-Syndrome Foundaion
- SKDEAS Foundation
- SMC1A Epilepsy Foundation
- SPATA Foundation
- SPG Research Foundation
- STAG1 Gene Foundation
- Sanford Health
- Scheuermann's Disease Fund
- Smith-Kingsmore Syndrome Foundation
- Soft Bones Incorporated
- Stickler Involved People
- TBX4Life
- TUBB3 Foundation
- Tango2 Research Foundation
- Taylor's Tale Foundation
- Team Telomere
- Team4Travis
- The Alagille Syndrome Alliance
- The Charlotte & Gwenyth Gray Foundation
- The Cute Syndrome Foundation
- The Foundation for Casey's Cure
- The LCC Foundation
- The Maddi Foundation
- The Malan Syndrome Foundation
- The PBCers Organization
- Transient Global Amnesia Project
- WWOX Foundation
- Warburg Micro Research Foundation
- White Sutton Syndrome Foundation
- Wiedemann-Steiner Syndrome Foundation
- Zmynd11 Gene Disorder
Data source: Sanford Health
For direct contact, visit the study record on ClinicalTrials.gov .