Our Survey Is Now Closed

The RDCRN research survey for rare disease patients and their families about impacts of COVID‑19 is now closed. If you completed our survey, thank you for your participation. If you chose to share your contact information, we may follow up with you in the future with additional study opportunities and to learn more about the ongoing impact of COVID-19 on your life. We are working to compile survey results and will share those on this website when available.



Results Dashboard

Number of surveys completed, by state. People with rare diseases from all over the country have participated in the survey.
Number of surveys completed, by date completed.
Survey respondents have many different rare diseases. The bubble plot shows respondents with diagnoses studied by individual consortia or research teams within the Rare Diseases Clinical Research Network. The names of the consortia with 50 or more completed surveys are reported in the plot. Find a complete list of consortia here.
Ten most reported diseases by people who have completed the survey. Rare diseases are not rare — an estimated 30 million people in the United States are affected by rare diseases.
Survey respondents have many different rare diseases. This table provides a list of all the diseases reported by people who have completed the survey.
Number of Patients Completing Survey by Diagnosis As of
DiagnosisNo. Patients
22q13 Deletion syndrome; Phelan-McDermid Syndrome; SHANK3 deletion/mutation36
ALG13 Congenital Disorder of Glycosylation3
Acute Intermittent Porphyria27
Adrenoleukodystrophy and Adrenomyeloneuropathy21
Aicardi-Goutieres Syndrome7
Alexander Disease2
Alpers syndrome3
Alpha-1 antitrypsin deficiency10
Amyotrophic Lateral Sclerosis (ALS)197
Amyotrophic Lateral Sclerosis-Frontotemporal Dementia (ALS-FTD)8
Arginase Deficiency (Hyperargininemia)1
Argininosuccinate Synthetase Deficiency (Citrullinemia)5
Argininosuccinic Lyase Deficiency (Argininosuccinic Aciduria)8
Autoimmune Pulmonary Alveolar Proteinosis (aPAP)19
Batten disease1
Behcet's Disease30
Birt-Hogg-Dube Syndrome (BHD)1
Blepharospasm1
Brittle Bone Disorder1
Bronchiectasis8
Bruck Syndrome1
CDKL5 mutation1
CHARGE Syndrome4
CPEO: Chronic Progressive External Ophthalmoplegia12
Carbamyl Phosphate Synthetase (CPS) Deficiency1
Carnitine acylcarcarnitine carnitine translocase (CACT) deficiency1
Carnitine palmitoyltransferase 2 (CPT2) deficiency6
Cerebral Cavernous Malformations (CCM)4
Cervical Dystonia11
Charcot Marie Tooth Disease CMT1A17
Charcot Marie Tooth Disease CMT1B1
Charcot Marie Tooth Disease CMT2A4
Charcot Marie Tooth Disease CMT41
Charcot Marie Tooth Disease CMT4J1
Charcot Marie Tooth Disease CMTX3
Chronic Granulomatous Disease8
Citrullinemia II1
Complex I Deficiency3
Complex III Deficiency1
Cystic Fibrosis89
Cystinosis5
Cytomegalovirus17
Danon disease2
Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia (DIPNECH)1
Duchenne muscular dystrophy4
Dystonia4
Encephalopathy3
Eosinophilic Colitis (EC)4
Eosinophilic Esophagitis (EoE)183
Eosinophilic Gastritis (EG)5
Eosinophilic Gastroenteritis (EGE)16
Eosinophilic Granulomatosis with Polyangiitis (Churg-Strauss)7
Erythropoietic Protoporphyria19
FOXG1 mutation5
Fabry Disease16
Fatty Acid Oxidation Disorder2
Focal and segmental glomerulosclerosis2
GM1-Gangliosidosis types I/II/III3
Gastrointestinal Disease6
Gaucher disease3
Generalized Dystonia6
Granulomatosis with Polyangiitis (Wegener's) (GPA)9
Hereditary Coproporphyria2
Hereditary Hemorrhagic Telangiectasia (HHT) - Brain Arteriovenous Malformation (BAVM)12
Hereditary Pulmonary Alveolar Proteinosis (hPAP)1
Hereditary spastic paraplegia (HSP)73
Hermansky-Pudlak Syndrome (HPS)1
Heterotaxy (aka left/right isomerism2
Hunter syndrome6
Hurler syndrome5
Hypereosinophilic Syndrome2
I-cell disease1
Idiopathic Bronchiectasis15
IgA Vasculitis (Henoch-Schonlein purpura)2
KSS: Kearns-Sayre syndrome11
Krabbe disease2
LHON1
LHON-plus2
Leigh syndrome11
Leukoencephalopathy3
Limb Dystonia1
Long chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) deficiency5
Lymphangioleiomyomatosis (LAM)58
MERRF: Myoclonus Epilepsy Ragged-red Fibers1
Maroteaux-Lamy syndrome2
Maternally inherited Leigh syndrome (MILS)1
Medium chain acylCoA dehydrogenase (MCAD) deficiency11
Meige Syndrome1
Membranous nephropathy1
Metachromatic Leukodystrophy7
Metachromatic leukodystrophy1
Microscopic Polyangiitis (MPA)1
Mitochondrial DNA Depletion Syndrome4
Mitochondrial Disease91
Mitochondrial encephalopathy lactic acidosis with stroke-like episodes (MELAS)15
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)4
Morquio syndrome3
Mucolipidosis Type IV1
Mucopolysaccharidoses (MPS)14
Multiple Deletions of Mitochondrial DNA1
Multiple Respiratory Chain Enzyme Deficiencies1
Myasthenia Gravis618
N-Acetylglutamate Synthase (NAGS) Deficiency1
NARP: Neuropathy8
NGLY1 Deficiency1
Neuropathy4
Niemann-Pick disease3
Nontuberculous Mycobacterium (NTM) Pulmonary Disease9
Northern Epilepsy1
Ocular Myasthenia21
Ornithine Transcarbamylase (OTC) Deficiency12
Ornithine Translocase Deficiency (HHH Syndrome)2
Osteogenesis Imperfecta (all types)21
Other Dystonias3
Other known Charcot Marie Tooth (CMT) Peripheral Neuropathy6
Other unknown Charcot Marie Tooth (CMT) Peripheral Neuropathy3
PMM2 Congenital Disorder of Glycosylation15
PTEN Hamartoma Tumor Syndrome1
Peripheral Neuropathy5
Peroxisome Biogenesis Disorder (Zellweger Spectrum Disorder)3
Phenylalanine hydroxylase deficiency (PKU)4
Pompe Disease3
Porphyria5
Porphyria Cutanea Tarda7
Primary Ciliary Dyskinesia (PCD)82
Primary Immune Deficiency59
Primary Lateral Sclerosis (PLS)27
Pycnodysostosis1
Pyruvate Dehydrogenase Complex Deficiencies (PDCD)9
Rare Lung Disease5
Rett Syndrome - Typical/Classic31
SANDO: Sensory Ataxia Neuropathy4
Sandhoff disease1
Sanfilippo syndrome A5
Sanfilippo syndrome C3
Secondary Pulmonary Alveolar Proteinosis (sPAP)2
Severe Combined Immunodeficiency (SCID)1
Sjogren-Larsson Syndrome2
Spasmodic Dysphonia1
Sturge-Weber Syndrome (SWS) - Leptomeningeal Angiomatosis5
Takayasu's Arteritis (TAK)2
Tuberous Sclerosis Complex (TSC)3
Turner Syndrome14
Urea Cycle Disorder5
Variegate Porphyria8
Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency5
Wolman Disease1
X-Linked Protoporphyria2
X-linked hypercalciuric nephrolithiasis1
Other / My rare disease is not in the list1256
Missing581