Search for a Rare Disease Study

Use the search bar below to find a study about a specific disease or syndrome. Patient reports on their lived experiences are of utmost importance to the clinical researchers who rely on IAMRARE to advance discovery of new treatments. Your involvement can make a difference.

All Rare Diseases

17q12 deletion and duplication syndromes

Chromosome 17q12 Deletion & Duplication Syndromes Patient Registry (17q12 Patient Registry)

Adult Polyglucosan Body Disease

APBDRF FAN Natural History Study

Albinism/HPS/CHS

Albinism International Databank

Appendix cancer/PMP

ACPMP Patient Registry

aspartylglucosaminuria

Aspartylglucosaminuria (AGU) Registry and Natural History Study

Autoimmune Polyendocrinopathy Candidiasis Ecto-dermal Dystrophy

The APS Type 1 (APECED) Registry

Autoimmune Polyglandular Syndrome Type 1

The APS Type 1 (APECED) Registry

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy)

CADASIL Community Natural History Study

Cerebral Creatine Deficiency Syndromes (CCDS)

CreatineInfo Registry

Chondrosarcoma

Chondrosarcoma Patient Registry

Chronic Inflammatory Demyelinating Polyneuropathy

GBS|CIDP Patient Registry

CLOVES Syndrome

CLOVES Syndrome Registry

Congenital Central Hypoventilation Syndrome

CCHS Network One World Registry

Desmoid tumor

DTRF Desmoid Tumor Patient Registry

EHE

Global EHE Patient Registry

Fanconi anemia

Fanconi Anemia Registry

FGFR Syndromes

FGFR Syndromes Research Registry

Fibrous Dysplasia

FD/MAS Patient Registry

Genetic Cardiomyopathy

The Genetic Cardiomyopathy Registry (GCR)

Globoid Cell Leukodystrophy

KrabbeCURES

Gorlin Syndrome

Gorlin Syndrome Alliance Patient Registry

Guillain-Barre Syndrome

GBS|CIDP Patient Registry

HHT

HHT Connect

Hypothalamic-pituitary tumors

Hypothalamic-Pituitary Brain Tumors Patient Registry

Idiopathic Thrombocytopenic Purpura

ITP Natural History Study Registry

IPPF

International Pemphigus & Pemphigoid Foundation Natural History Registry

Kabuki Syndrome

Kabuki Syndrome Registry

KAT6A

KAT6A/KAT6B Patient Registry

KAT6B

KAT6A/KAT6B Patient Registry

Krabbe Disease

KrabbeCURES

Lennox-Gastaut Syndrome (LGS)

LGS-CORE Study

LGMD2A/Calpainopathy

LGMD2A/Calpainopathy Registry

McCune-Albright Syndrome

FD/MAS Patient Registry

Mitochondrial Aminoacyl-tRNA synthetase (mtARS) Disorders

CureARS MAPS Registry

Moebius syndrome

Moebius Syndrome Foundation Research Registry

mucopolysaccharide & related diseases

The Canadian MPS Registry

necrotizing enterocolitis

The Necrotizing Enterocolitis (NEC) Registry

neuropathic facial pain

The Facial Pain Registry

Nevoid Basal Cell Carcinoma Syndrome

Gorlin Syndrome Alliance Patient Registry

Ocular Melanoma

INSIGHT

Opsoclonus Myoclonus Ataxia Syndrome (OMAS)

OMS Patient Registry

Organic Acidemia

The OAA Natural History Patient Registry

Peroxisomal Disorders

The GFPD Patient Registry for Peroxisomal Disorders

Phenylketonuria (PKU)

PKU Patient Registry

PKU

The Canadian PKU Registry

PNH

The Global Paroxysmal Nocturnal Hemoglobinuria (PNH) Patient Registry

Prader-Willi Syndrome

Global Prader-Willi Syndrome Registry

SCN2A-related disorders

SCN2A DRAGONFLY Registry

SCN8A

The Cute Syndrome Foundation Global SCN8A Survey Series

Stiff Person Syndrome (SPS)

Stiff Person Syndrome Global Registry

SYS

The Global Schaaf-Yang Syndrome Registry

Tatton Brown Rahman Syndrome and DNMT3A-related disorders

Tatton Brown Rahman Syndrome Community Patient Registry

Topical Steroid Withdrawal Syndrome (TSW)

Topical Steroid Withdrawal Syndrome Patient Registry

Vestibular Disorders

Dizziness, Vertigo and Imbalance Patient Registry

von Hippel-Lindau (VHL)

MyVHL: Patient Natural History Study

Wolfram Syndrome

Wolfram Syndrome Global Patient Registry