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PATient based phenotyping and evaluation of therapy for RASopathies within the framework of the collaborative project EURAS – EURopean network for neurodevelopmental RASopathies

PATient based phenotyping and evaluation of therapy for RASopathies within the framework of the collaborative project EURAS – EURopean network for neurodevelopmental RASopathies - PATRAS B

Status
Recruiting
Phases
Unknown
Study type
Observational
Source
DRKS
Registry ID
DRKS00032923
Enrollment
3000
Registered
2023-10-26
Start date
2023-11-01
Completion date
Unknown
Last updated
2025-04-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Q87.8

Interventions

Group 1: It is a non-interventional study that lasts 4 years. Patients with clinically or molecularly confirmed RASopathies are observed and interrogated about their phenotype and their reaction to th

Sponsors

Institut für Humangenetik der medizinischen Fakultät der Otto-von-Guericke-Universität Magdeburg
Lead Sponsor

Eligibility

Sex/Gender
All

Inclusion criteria

Inclusion criteria: clinically or genetically confirmed RASopathy

Exclusion criteria

Exclusion criteria: not applicable

Design outcomes

Primary

MeasureTime frame
observational cohort study/patient registry The aim of this study is to better describe the neurodevelopmental phenotype in RASopathies and possibly detect novel therapeutical targets.

Secondary

MeasureTime frame
observational cohort study/patient registry

Countries

Afghanistan, Åland Islands, Albania, Algeria, American Samoa, Andorra, Angola, Anguilla, Antigua & Barbuda, Argentina, Armenia, Aruba, Australia, Austria, Azerbaijan, Bahamas, Bahrain, Bangladesh, Barbados, Belarus, Belgium, Belize, Benin, Bermuda, Bhutan, Bolivia, Bosnia & Herzegovina, Botswana, Brazil, British Indian Ocean Territory, British Virgin Islands, Brunei, Bulgaria, Burkina Faso, Burundi, Cambodia, Cameroon, Canada, Canary Islands, Cape Verde, Cayman Islands, Central African Republic, Chad, Chile, China, Christmas Island, Cocos (Keeling) Islands, Colombia, Comoros, Congo - Brazzaville, Congo - Kinshasa, Cook Islands, Costa Rica, Côte d’Ivoire, Croatia, Cuba, Curaçao, Cyprus, Czechia, Denmark, Diego Garcia, Djibouti, Dominica, Dominican Republic, Ecuador, Egypt, El Salvador, Equatorial Guinea, Eritrea, Estonia, Eswatini, Ethiopia, Falkland Islands, Faroe Islands, Fiji, Finland, France, French Guiana, French Polynesia, Gabon, Gambia, Georgia, Germany, Ghana, Gibraltar, Greece, Greenland, Grenada, Guadeloupe, Guam, Guatemala, Guernsey, Guinea, Guinea-Bissau, Guyana, Haiti, Honduras, Hong Kong SAR China, Hungary, Iceland, India, Indonesia, Iran, Iraq, Ireland, Isle of Man, Israel, Italy, Jamaica, Japan, Jersey, Jordan, Kazakhstan, Kenya, Kiribati, Kosovo, Kuwait, Kyrgyzstan, Laos, Latvia, Lebanon, Lesotho, Liberia, Libya, Liechtenstein, Lithuania, Luxembourg, Macao SAR China, Madagascar, Malawi, Malaysia, Mali, Malta, Marshall Islands, Martinique, Mauritania, Mauritius, Mayotte, Mexico, Micronesia, Moldova, Monaco, Mongolia, Montenegro, Montserrat, Morocco, Mozambique, Myanmar (Burma), Namibia, Nauru, Nepal, Netherlands, New Caledonia, New Zealand, Nicaragua, Niger, Nigeria, Niue, Norfolk Island, Northern Mariana Islands, North Korea, North Macedonia, Norway, Oman, Pakistan, Palau, Palestinian Territories, Panama, Papua New Guinea, Paraguay, Peru, Philippines, Pitcairn Islands, Poland, Portugal, Puerto Rico, Qatar, Réunion, Romania, Russia, Rwanda, Samoa, San Marino, São Tomé & Príncipe, Saudi Arabia, Senegal, Serbia, Serbia and Montenegro, Seychelles, Sierra Leone, Singapore, Slovakia, Slovenia, Solomon Islands, Somalia, South Africa, South Korea, Spain, Sri Lanka, St. Barthélemy, St. Helena, St. Kitts & Nevis, St. Lucia, St. Martin, St. Pierre & Miquelon, St. Vincent & Grenadines, Sudan, Suriname, Svalbard & Jan Mayen, Sweden, Switzerland, Syria, Taiwan, Tajikistan, Tanzania, Thailand, Timor-Leste, Togo, Tokelau, Tonga, Trinidad & Tobago, Tunisia, Turkey, Turkmenistan, Turks & Caicos Islands, Tuvalu, Uganda, Ukraine, United Arab Emirates, United Kingdom, United States, Uruguay, U.S. Outlying Islands, U.S. Virgin Islands, Uzbekistan, Vanuatu, Vatican City, Venezuela, Vietnam, Wallis & Futuna, Western Sahara, Yemen, Zambia, Zimbabwe

Contacts

Public ContactMartin Zenker

Institut für Humangenetik der medizinischen Fakultät der Otto-von-Guericke-Universität Magdeburg

martin.zenker@med.ovgu.de+493916715062

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 4, 2026